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Hereditary Spherocytosis
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<<forEachTiddler where 'tiddler.tags.contains(context.inTiddler.title)' sortBy tiddler.title ascending write '"*[["+tiddler.title+"]]\n"'>> <<tiddler AutoRefresh with: force>> ''Basics'' most common hereditary haemolytic anaemia in people of northern European descent autosomal dominant defect of red blood cell cytoskeleton the normal biconcave disc shape is replaced by a sphere-shaped red blood cell red blood cell survival reduced as destroyed by the spleen ''Presentation'' failure to thrive jaundice, gallstones splenomegaly aplastic crisis precipitated by parvovirus infection degree of haemolysis variable MCHC elevated ''Diagnosis'' osmotic fragility test ''Management'' folate replacement splenectomy ''Comparing G6PD deficiency to hereditary spherocytosis'' ||G6PD deficiency|Hereditary spherocytosis| |Gender|Male (X-linked recessive)|Male + female (autosomal dominant)| |Ethnicity|African + Mediterranean descent|Northern European descent| |Typical history|Neonatal jaundice|Neonatal jaundice| ||Infection/drugs precipitate haemolysis|Chronic symptoms although haemolytic crises may be precipitated by infection| ||Gallstones|Gallstones| |||Splenomegaly is common| |Blood film|Heinz bodies|Spherocytes (round, lack of central pallor)| |Diagnostic test|Measure enzyme activity of G6PD|Osmotic fragility test|
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Haematology